Incidental Mutation 'R5870:Dock8'
ID 455167
Institutional Source Beutler Lab
Gene Symbol Dock8
Ensembl Gene ENSMUSG00000052085
Gene Name dedicator of cytokinesis 8
Synonyms 1200017A24Rik, 5830472H07Rik, A130095G14Rik
MMRRC Submission 044078-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # R5870 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 24976898-25179796 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 25109490 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 891 (A891S)
Ref Sequence ENSEMBL: ENSMUSP00000025831 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025831]
AlphaFold Q8C147
PDB Structure Crystal structure of the DHR-2 domain of DOCK8 in complex with Cdc42 (T17N mutant) [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000025831
AA Change: A891S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000025831
Gene: ENSMUSG00000052085
AA Change: A891S

DomainStartEndE-ValueType
Pfam:DUF3398 71 164 3.9e-25 PFAM
Pfam:DOCK-C2 557 739 6.7e-49 PFAM
low complexity region 786 803 N/A INTRINSIC
low complexity region 1003 1020 N/A INTRINSIC
low complexity region 1123 1138 N/A INTRINSIC
low complexity region 1236 1246 N/A INTRINSIC
low complexity region 1371 1383 N/A INTRINSIC
Pfam:DHR-2 1534 2060 5e-210 PFAM
Meta Mutation Damage Score 0.0972 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.2%
  • 20x: 91.1%
Validation Efficiency 93% (84/90)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the DOCK180 family of guanine nucleotide exchange factors. Guanine nucleotide exchange factors interact with Rho GTPases and are components of intracellular signaling networks. Mutations in this gene result in the autosomal recessive form of the hyper-IgE syndrome. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Jun 2010]
PHENOTYPE: Mice homozygous for inactivating mutations of this gene exhibit loss of marginal zone B cells, decrease in peritoneal B1 cells and peripheral naive T cells, failure of sustained antibody response after immunization, failure of germinal center persistence, and failure of B cell affinity maturation. [provided by MGI curators]
Allele List at MGI

All alleles(6) : Gene trapped(4) Chemically induced(2)

Mice homozygous for inactivating mutations of this gene exhibit loss of marginal zone B cells, decrease in peritoneal B1 cells and peripheral naive T cells, failure of sustained antibody response after immunization, failure of germinal center persistence, and failure of B cell affinity maturation.

Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy9 A G 16: 4,236,232 (GRCm39) V156A probably damaging Het
Ak6 C A 13: 100,791,932 (GRCm39) P125Q probably damaging Het
Aqp4 A C 18: 15,532,946 (GRCm39) V49G probably damaging Het
Arfgef1 A G 1: 10,251,163 (GRCm39) I874T probably damaging Het
Arid1a T C 4: 133,408,387 (GRCm39) D2040G unknown Het
Atp1a3 T G 7: 24,697,003 (GRCm39) D220A probably benign Het
C2cd4c A T 10: 79,448,043 (GRCm39) I368N possibly damaging Het
Ccnt1 G A 15: 98,441,394 (GRCm39) Q625* probably null Het
Cd177 T A 7: 24,455,757 (GRCm39) H255L probably benign Het
Cdipt G A 7: 126,578,094 (GRCm39) V114M probably benign Het
Coro1b T A 19: 4,199,384 (GRCm39) H14Q probably damaging Het
Ctdp1 T A 18: 80,451,901 (GRCm39) D158V unknown Het
Cts7 A T 13: 61,503,545 (GRCm39) S140T probably damaging Het
Dlgap3 T A 4: 127,089,502 (GRCm39) L366* probably null Het
Dnah9 C T 11: 65,976,036 (GRCm39) A1338T probably benign Het
Dock7 T C 4: 98,952,199 (GRCm39) I424V probably benign Het
Dync2i1 A G 12: 116,219,865 (GRCm39) S26P possibly damaging Het
Elmod3 A G 6: 72,571,721 (GRCm39) probably null Het
Eps15 G A 4: 109,218,507 (GRCm39) E107K probably damaging Het
Esco1 A T 18: 10,593,744 (GRCm39) probably null Het
Fuz A G 7: 44,549,742 (GRCm39) T407A probably damaging Het
Galr1 A T 18: 82,424,197 (GRCm39) F27I probably benign Het
Glt1d1 A G 5: 127,754,344 (GRCm39) Y182C probably damaging Het
Gm37240 A T 3: 84,597,828 (GRCm39) probably benign Het
Gm37610 A G 6: 41,061,848 (GRCm39) noncoding transcript Het
Gm6658 G T 8: 91,635,020 (GRCm39) probably benign Het
Gm9376 A G 14: 118,504,789 (GRCm39) T74A possibly damaging Het
Hadha G A 5: 30,349,284 (GRCm39) S109F possibly damaging Het
Herc3 A T 6: 58,893,435 (GRCm39) Q899L probably benign Het
Ift172 C T 5: 31,434,284 (GRCm39) E485K probably benign Het
Lrrc8e A G 8: 4,285,725 (GRCm39) K650R possibly damaging Het
Ly6d A T 15: 74,635,381 (GRCm39) V10D possibly damaging Het
Med27 A G 2: 29,279,823 (GRCm39) probably null Het
Med29 A T 7: 28,091,922 (GRCm39) V56E probably damaging Het
Mobp A G 9: 119,996,919 (GRCm39) K17E probably damaging Het
Mrpl37 G A 4: 106,923,919 (GRCm39) T25I probably benign Het
Myh1 A G 11: 67,092,805 (GRCm39) D33G possibly damaging Het
Nrg3 T A 14: 39,194,586 (GRCm39) I58F possibly damaging Het
Or52e2 A G 7: 102,804,948 (GRCm39) I2T probably benign Het
Or7e176 A G 9: 20,171,874 (GRCm39) D246G probably benign Het
Padi1 T A 4: 140,553,892 (GRCm39) D359V probably benign Het
Pcdh7 T C 5: 57,877,753 (GRCm39) V436A possibly damaging Het
Pgm3 C A 9: 86,452,414 (GRCm39) K15N probably damaging Het
Phip A T 9: 82,790,730 (GRCm39) probably benign Het
Pot1a G A 6: 25,778,950 (GRCm39) T48I possibly damaging Het
Ppic T C 18: 53,542,333 (GRCm39) K125R probably benign Het
Ppm1j T C 3: 104,692,811 (GRCm39) V440A possibly damaging Het
Prg4 T A 1: 150,331,300 (GRCm39) K458* probably null Het
Rd3 A T 1: 191,717,261 (GRCm39) M244L probably benign Het
Rflnb A G 11: 75,912,864 (GRCm39) Y175H probably benign Het
Rnf157 T A 11: 116,237,900 (GRCm39) S574C probably benign Het
Sardh A G 2: 27,110,653 (GRCm39) probably null Het
Senp3 C T 11: 69,569,048 (GRCm39) probably null Het
Siglec1 G A 2: 130,914,767 (GRCm39) R1450C probably damaging Het
Sim2 A G 16: 93,924,193 (GRCm39) H446R probably damaging Het
Spon1 T C 7: 113,631,021 (GRCm39) I444T probably damaging Het
Srebf1 T A 11: 60,094,410 (GRCm39) Q568H possibly damaging Het
Stxbp4 A T 11: 90,428,782 (GRCm39) I441N possibly damaging Het
Sugt1 G A 14: 79,846,451 (GRCm39) V163I probably benign Het
Surf1 G T 2: 26,806,271 (GRCm39) probably benign Het
Synj2 A G 17: 6,088,128 (GRCm39) E1348G probably benign Het
Tc2n A T 12: 101,619,111 (GRCm39) V349D probably damaging Het
Ten1 A G 11: 116,105,751 (GRCm39) R112G possibly damaging Het
Tm9sf4 A G 2: 153,036,201 (GRCm39) D321G probably damaging Het
Ttll12 A T 15: 83,461,237 (GRCm39) M594K probably damaging Het
Ttn T A 2: 76,703,058 (GRCm39) probably benign Het
Usp28 C T 9: 48,937,285 (GRCm39) Q185* probably null Het
Vmn2r112 A G 17: 22,838,004 (GRCm39) I822V probably benign Het
Zc3hc1 A T 6: 30,382,682 (GRCm39) L88* probably null Het
Zfr T A 15: 12,160,701 (GRCm39) V758D probably damaging Het
Zfyve27 T G 19: 42,160,110 (GRCm39) L42R probably benign Het
Other mutations in Dock8
AlleleSourceChrCoordTypePredicted EffectPPH Score
captain_morgan APN 19 25,105,076 (GRCm39) critical splice donor site probably benign
primurus APN 19 25,160,973 (GRCm39) missense probably damaging 1.00
IGL00737:Dock8 APN 19 25,160,340 (GRCm39) missense probably benign 0.00
IGL00755:Dock8 APN 19 25,028,873 (GRCm39) missense probably benign 0.09
IGL00822:Dock8 APN 19 25,165,773 (GRCm39) nonsense probably null
IGL00838:Dock8 APN 19 25,152,823 (GRCm39) nonsense probably null
IGL01419:Dock8 APN 19 25,096,816 (GRCm39) missense probably benign 0.08
IGL01456:Dock8 APN 19 25,096,863 (GRCm39) missense possibly damaging 0.95
IGL01532:Dock8 APN 19 25,146,805 (GRCm39) missense probably damaging 0.99
IGL01602:Dock8 APN 19 25,067,252 (GRCm39) splice site probably benign
IGL01605:Dock8 APN 19 25,067,252 (GRCm39) splice site probably benign
IGL01753:Dock8 APN 19 25,038,656 (GRCm39) splice site probably benign
IGL01843:Dock8 APN 19 25,067,292 (GRCm39) missense probably benign 0.02
IGL02032:Dock8 APN 19 25,107,769 (GRCm39) missense probably damaging 0.99
IGL02073:Dock8 APN 19 25,178,350 (GRCm39) critical splice acceptor site probably null
IGL02192:Dock8 APN 19 25,055,569 (GRCm39) critical splice donor site probably null
IGL02402:Dock8 APN 19 25,055,509 (GRCm39) missense probably benign 0.25
IGL02529:Dock8 APN 19 25,078,290 (GRCm39) nonsense probably null
IGL02728:Dock8 APN 19 25,109,584 (GRCm39) missense probably benign
IGL02739:Dock8 APN 19 25,165,852 (GRCm39) missense probably damaging 1.00
IGL03037:Dock8 APN 19 25,063,545 (GRCm39) missense probably benign 0.02
IGL03104:Dock8 APN 19 25,178,384 (GRCm39) nonsense probably null
IGL03137:Dock8 APN 19 25,133,312 (GRCm39) missense probably benign 0.19
IGL03365:Dock8 APN 19 25,077,048 (GRCm39) missense possibly damaging 0.70
Defenseless UTSW 19 25,028,927 (GRCm39) missense probably benign 0.00
Guardate UTSW 19 25,127,195 (GRCm39) missense probably benign
hillock UTSW 19 25,151,697 (GRCm39) critical splice donor site probably null
Molehill UTSW 19 25,107,825 (GRCm39) missense probably damaging 1.00
Pap UTSW 19 25,099,805 (GRCm39) missense probably benign 0.31
Papilla UTSW 19 25,055,448 (GRCm39) nonsense probably null
snowdrop UTSW 19 25,162,305 (GRCm39) critical splice donor site probably null
warts_and_all UTSW 19 25,146,865 (GRCm39) critical splice donor site probably null
R0021:Dock8 UTSW 19 25,140,411 (GRCm39) missense probably benign 0.01
R0147:Dock8 UTSW 19 25,096,823 (GRCm39) missense probably benign 0.00
R0148:Dock8 UTSW 19 25,096,823 (GRCm39) missense probably benign 0.00
R0294:Dock8 UTSW 19 25,165,714 (GRCm39) missense probably damaging 1.00
R0537:Dock8 UTSW 19 25,148,941 (GRCm39) missense probably benign 0.08
R0630:Dock8 UTSW 19 25,038,524 (GRCm39) missense probably benign 0.10
R1163:Dock8 UTSW 19 25,028,867 (GRCm39) missense probably benign
R1164:Dock8 UTSW 19 25,067,391 (GRCm39) missense probably benign 0.44
R1471:Dock8 UTSW 19 25,178,400 (GRCm39) missense possibly damaging 0.74
R1477:Dock8 UTSW 19 25,072,914 (GRCm39) missense possibly damaging 0.95
R1633:Dock8 UTSW 19 25,028,927 (GRCm39) missense probably benign 0.00
R1803:Dock8 UTSW 19 25,109,599 (GRCm39) missense probably benign 0.00
R1822:Dock8 UTSW 19 25,138,422 (GRCm39) missense probably benign 0.31
R1852:Dock8 UTSW 19 25,104,492 (GRCm39) missense probably benign 0.45
R1916:Dock8 UTSW 19 25,038,521 (GRCm39) missense probably benign 0.02
R1984:Dock8 UTSW 19 25,098,545 (GRCm39) missense probably null
R2311:Dock8 UTSW 19 25,160,368 (GRCm39) missense possibly damaging 0.93
R2341:Dock8 UTSW 19 25,177,757 (GRCm39) missense probably damaging 0.99
R2483:Dock8 UTSW 19 25,057,241 (GRCm39) missense probably benign
R3116:Dock8 UTSW 19 25,165,858 (GRCm39) missense probably benign 0.00
R3157:Dock8 UTSW 19 25,127,195 (GRCm39) missense probably benign
R3623:Dock8 UTSW 19 25,057,241 (GRCm39) missense probably benign
R3624:Dock8 UTSW 19 25,057,241 (GRCm39) missense probably benign
R3800:Dock8 UTSW 19 25,141,716 (GRCm39) missense probably benign 0.08
R3844:Dock8 UTSW 19 25,042,794 (GRCm39) nonsense probably null
R3895:Dock8 UTSW 19 25,028,865 (GRCm39) missense probably benign 0.31
R3901:Dock8 UTSW 19 25,078,269 (GRCm39) missense possibly damaging 0.69
R3959:Dock8 UTSW 19 25,162,305 (GRCm39) critical splice donor site probably null
R4428:Dock8 UTSW 19 25,042,754 (GRCm39) missense probably benign 0.00
R4428:Dock8 UTSW 19 25,177,863 (GRCm39) missense probably damaging 0.98
R4429:Dock8 UTSW 19 25,042,754 (GRCm39) missense probably benign 0.00
R4431:Dock8 UTSW 19 25,042,754 (GRCm39) missense probably benign 0.00
R4545:Dock8 UTSW 19 25,165,722 (GRCm39) missense probably damaging 1.00
R4839:Dock8 UTSW 19 25,146,858 (GRCm39) missense probably benign 0.00
R4897:Dock8 UTSW 19 25,159,001 (GRCm39) missense probably benign 0.00
R4939:Dock8 UTSW 19 25,099,764 (GRCm39) missense probably damaging 1.00
R4995:Dock8 UTSW 19 25,135,747 (GRCm39) missense probably benign 0.02
R5035:Dock8 UTSW 19 25,063,571 (GRCm39) missense probably damaging 0.99
R5294:Dock8 UTSW 19 25,038,517 (GRCm39) missense probably benign 0.01
R5324:Dock8 UTSW 19 25,140,458 (GRCm39) missense probably benign 0.17
R5478:Dock8 UTSW 19 25,057,186 (GRCm39) missense probably benign
R5704:Dock8 UTSW 19 25,151,586 (GRCm39) missense probably damaging 1.00
R5724:Dock8 UTSW 19 25,099,785 (GRCm39) missense probably damaging 1.00
R5745:Dock8 UTSW 19 25,107,761 (GRCm39) missense probably benign 0.02
R5864:Dock8 UTSW 19 25,038,584 (GRCm39) missense probably damaging 0.99
R5893:Dock8 UTSW 19 25,099,811 (GRCm39) missense probably damaging 1.00
R5954:Dock8 UTSW 19 25,148,983 (GRCm39) missense probably damaging 1.00
R6087:Dock8 UTSW 19 25,138,438 (GRCm39) missense probably benign 0.00
R6223:Dock8 UTSW 19 25,138,416 (GRCm39) missense probably benign 0.00
R6391:Dock8 UTSW 19 25,072,914 (GRCm39) missense possibly damaging 0.95
R6759:Dock8 UTSW 19 25,104,848 (GRCm39) missense probably damaging 0.99
R6786:Dock8 UTSW 19 25,160,386 (GRCm39) missense possibly damaging 0.49
R6794:Dock8 UTSW 19 25,099,805 (GRCm39) missense probably benign 0.31
R6818:Dock8 UTSW 19 25,146,865 (GRCm39) critical splice donor site probably null
R6885:Dock8 UTSW 19 25,124,742 (GRCm39) missense possibly damaging 0.95
R6908:Dock8 UTSW 19 25,165,746 (GRCm39) missense probably damaging 1.00
R6923:Dock8 UTSW 19 25,072,970 (GRCm39) missense probably benign
R7001:Dock8 UTSW 19 25,077,041 (GRCm39) missense probably benign
R7141:Dock8 UTSW 19 25,158,984 (GRCm39) missense probably null 0.75
R7203:Dock8 UTSW 19 25,158,927 (GRCm39) missense probably damaging 1.00
R7257:Dock8 UTSW 19 25,104,449 (GRCm39) missense probably benign 0.08
R7296:Dock8 UTSW 19 25,162,245 (GRCm39) missense probably benign 0.00
R7538:Dock8 UTSW 19 25,135,782 (GRCm39) missense probably damaging 1.00
R7555:Dock8 UTSW 19 25,152,764 (GRCm39) missense probably damaging 0.99
R7641:Dock8 UTSW 19 25,151,697 (GRCm39) critical splice donor site probably null
R7764:Dock8 UTSW 19 25,074,899 (GRCm39) missense probably benign
R7859:Dock8 UTSW 19 25,160,934 (GRCm39) missense probably damaging 1.00
R7864:Dock8 UTSW 19 25,140,864 (GRCm39) missense possibly damaging 0.95
R8090:Dock8 UTSW 19 25,131,606 (GRCm39) missense probably damaging 1.00
R8160:Dock8 UTSW 19 25,124,711 (GRCm39) missense probably damaging 1.00
R8287:Dock8 UTSW 19 25,107,825 (GRCm39) missense probably damaging 1.00
R8295:Dock8 UTSW 19 25,100,600 (GRCm39) missense probably benign 0.04
R8443:Dock8 UTSW 19 25,133,281 (GRCm39) missense probably benign 0.04
R8537:Dock8 UTSW 19 25,107,870 (GRCm39) missense probably benign 0.00
R8673:Dock8 UTSW 19 25,160,867 (GRCm39) missense probably damaging 0.96
R8709:Dock8 UTSW 19 25,055,448 (GRCm39) nonsense probably null
R8834:Dock8 UTSW 19 25,140,834 (GRCm39) missense probably benign 0.16
R8991:Dock8 UTSW 19 25,165,731 (GRCm39) missense possibly damaging 0.82
R9292:Dock8 UTSW 19 25,160,995 (GRCm39) splice site probably benign
R9509:Dock8 UTSW 19 25,072,985 (GRCm39) missense probably benign 0.00
R9526:Dock8 UTSW 19 25,165,739 (GRCm39) missense probably benign 0.10
R9622:Dock8 UTSW 19 25,098,545 (GRCm39) missense probably null
R9634:Dock8 UTSW 19 25,169,585 (GRCm39) missense probably damaging 1.00
R9654:Dock8 UTSW 19 25,124,710 (GRCm39) missense probably damaging 1.00
R9670:Dock8 UTSW 19 25,148,926 (GRCm39) missense probably null 0.01
R9699:Dock8 UTSW 19 25,133,388 (GRCm39) critical splice donor site probably null
R9726:Dock8 UTSW 19 25,154,374 (GRCm39) missense probably damaging 0.97
R9765:Dock8 UTSW 19 25,146,832 (GRCm39) missense possibly damaging 0.94
X0027:Dock8 UTSW 19 25,138,493 (GRCm39) missense probably benign
Z1177:Dock8 UTSW 19 25,133,336 (GRCm39) missense probably benign 0.16
Z1177:Dock8 UTSW 19 25,109,487 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- GTACCAAGTGTATGCCTCCAGTC -3'
(R):5'- AGTGCATACAGTAGACATCAGCTAAG -3'

Sequencing Primer
(F):5'- TCCGAGCTGCAGAATACTCAAGG -3'
(R):5'- GAAGCAAAACAAGAGTACATGTGCC -3'
Posted On 2017-02-10